title: Choanal atresia and hypothelia following methimazole exposure in utero: a second report.
abstract: We report on a 3-year-old boy with bilateral choanal atresia, hypoplastic nipples, and developmental delay who had been exposed to carbimazole in utero because of maternal Graves disease. His combination of abnormalities and facial appearance strongly resembles that of a previously reported child exposed to methimazole (which is the active metabolite of carbimazole) in utero. We suggest that this represents a rare but distinct syndrome of methimazole teratogenicity, probably related to first-trimester exposure. Recognition of such teratogenic effects is clearly important for genetic counselling and for management of subsequent pregnancies.
authors.affiliation: Regional Genetics Service, St. Mary's Hospital, Manchester, United Kingdom. lwilson@central.cmht.nwest.nhs.uk
authors.forename: L C
authors.initials: LC
authors.lastname: Wilson
authors.forename: B A
authors.initials: BA
authors.lastname: Kerr
authors.forename: R
authors.initials: R
authors.lastname: Wilkinson
authors.forename: C
authors.initials: C
authors.lastname: Fossard
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000015:Abnormalities, Multiple / Q000139:chemically induced*; D013956:Antithyroid Agents / Q000009:adverse effects* / Q000627:therapeutic use; D002675:Child, Preschool; D002754:Choanal Atresia / Q000139:chemically induced*; D002892:Chromosomes, Human, Pair 22; D005145:Face / Q000002:abnormalities; D005260:Female; D006111:Graves Disease / Q000188:drug therapy; D034381:Hearing Loss / Q000139:chemically induced; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008713:Methimazole / Q000009:adverse effects* / Q000627:therapeutic use; D009123:Muscle Hypotonia / Q000139:chemically induced; D009558:Nipples / Q000002:abnormalities; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy; D013723:Teratogens / Q000494:pharmacology*
chemical_list: D013956:Antithyroid Agents; D013723:Teratogens; D008713:Methimazole